Getting real...

This week, we returned to the geneticist, and received some 'good' news.

The news? Nothing to see here. Nothing genetic of note going on in Billy.

 On one very important level, this is great. Nothing better than a clear result.

On another level, it's yet another annoying autism story. And here's why. The geneticist made the decision, without giving us any of the details, to do an array for anything vaguely autism related.

Sensible decision, given the fact that Billy is autistic? Maybe.

Autism is not the reason we went to the geneticist. We went there to investigate why Billy (who is autistic) has immune issues, chronic GI issues and now seizures. The emergence of the triumvirate, as life (and lifestyle) determinants, is the reason we needed to seek background information from genetics. The concern, from all concerned, was that an overarching genetic condition may be causing these things to emerge.

The identification (if possible, and if it is there) of an overarching condition would be handy for a few reasons.

The first is obviously that we might be able to treat/manage said condition better and prevent health crises. While Billy is clearly not bleeding from an artery constantly, he is generally no where near robust, and new challenges emerge with disquieting regularity. It would help all of us to know a little more about why and how to respond.

The second is that it would be handy to have a medical information framework that may guide decisions we make (and Billy makes in the future) about everyday life. At the moment, we are working blind - trying things suggested by doctors, trying things suggested by other parents in similar conditions, trying things suggested to improve his overall health. Some things have a positive effect (probiotics, superfoods, some supplements), others have a spectacularly negative effect (PPIs, some laxatives). It is imprecise and occasionally quite distressing.

The third is less specific. It's about the feeling that we are a part of some bizarre window in history, where a generation (and maybe those that follow) are falling like flies. It does not feel OK, that we are surrounded by autism. It feels frightening. A reason, would soothe some of that fear, in an odd kind of way.

In proudly presenting us with a clean slate, the geneticist was clear that he was only able to provide information in his neck of the medical woods. He is all about the biological hardwiring, other doctors handle the other areas of body information.

He did, however, kindly offer me some advice and reflections on autism and how it impacts on Billy. He said Billy was clearly autistic. He suggested autistic kids need help with their social skills. He noted that while Billy's behaviour was very calm, it was in no way appropriate for his age.

Uh huh. O.K... In the moment, I looked blankly at him, thanked him for his efforts and left.

It took me a couple of hours, and a few conversations to work out what had just happened.

So, I'm drafting an email to him, in an effort to help both of us avoid the potential of me returning to his building and tripping him in the hallway out of sheer frustration.

Dear Dr Genes, 

Thanks for seeing us. Apologies for the fact that we had to hide in that empty room because your long, thin, shared waiting room was so chock-a-block with babies, their strollers and their siblings that Billy had an immediate panic attack (despite wearing the industrial ear protection he got from the Formula One Grand Prix site).

 It is a relief that none of the genetic syndromes commonly related to autism are present in Billy. 

Given that we came to you relatively unconcerned about the origins of Billy's autism, the results we received from you will go a small way towards us feeling more confident about making decisions with and for him in the future.


From my layperson's point-of-view, it may have been more useful if you had, perhaps, done the array for the combination of GI, immune, seizures and not just for autism. This is what we requested, but I understand that perhaps costs are involved, or the search for a needle in a haystack is impractical for another reason.

I also suspect I am not always the clearest in my communication with the medical profession. I suspect this, mainly because of the amount of unusual decisions that are made in response to my requests to gain some insight into Billy's health. 

I'm going out on a limb here, but seeing as how you finished our last appointment with a resolute 'so, we've reached the end of our search', I'm guessing there will be no love lost in the receipt of the words below.

Your job is genetics. I have no doubt, you are deeply skilled and that you know the field of genetics as well as it can be known. 

While I'm certain your intentions are absolutely honourable, I was surprised that your feedback came with advice on autism related behaviour management or social skills.


It was also surprising to hear statements that started with phrases like 'all kids with autism need...', and 'all kids on the spectrum have...' from you. This is not because I do not want advice about Billy, far from it. I came to you for that. I don't want to hear those phrases because that kind of stuff makes for shallow headlines and coffee shop conversation, not medical guidance. Especially not from a geneticist.


All kids with autism have different needs. Kind of like 'all' kids.

Billy has a speech therapist. He has an occupational therapist. He has a psychologist. He has a neurologist and a gastroenterologist. He has a nutritionist. He has teachers supervising his education. They help with the behaviour, the learning, the diet and the social skills. 

We have a solid program in place, that respects and embraces his disability, and we feel confident we are managing as well as we can, right now.


I was really hoping you could have helped with his health. But, I guess you can't. You can't see past the autism, which is (oddly) not our concern in relation to our interaction with you.


For what it is worth, you are not the only one who will receive a letter like this one. Dr Poo 1 & 2, Dr Immune, a couple of paediatricians, a few GPs and a whole legion of interns and nurses will get (or should get) one too. 

(A noticeable few members of your profession will get a mysterious box of chocolates with all the good stuff artfully arranged on the outside, to symbolise their refreshing mode of thinking.)


To all of you getting this one, though, I'd like to be clear on paper (as in person, I am not getting it clear at all). 


We'd like to know why our son is sick. If that helps us understand more about autism, great, but first, help us understand and manage the sickness. We need detailed, reliable information on that.  If and when we can get the illness under control, you can offer your opinions or your reliable research (they seem to be interchangeable) on autism generally. 

We have no doubt, given the experience we share with many others in autism world, that autism and illness are inextricably linked. We also understand that we (and you) do not know how, nor do we know enough about autism broadly, to unravel why so many autistic kids are so specifically and similarly sick.


We understand it, but we do not accept or condone it as an ongoing modus operandi. We are happy to work on this with you, however we can.

I need you to hear, that from our perspective, it doesn't seem fair for doctors to use a lack of understanding of autism, to justify not investigating why autistic children are sick. It is not OK, as a parent, to have someone say, 'Oh yeah, lots of autistic kids have seizures', as though we should not be worrying about our own kids' seizures because lots of other kids have them too. Especially when, as with the immune issues, the GI issues, the sensory issues, the hearing issues etc, they are described as atypical on every piece of diagnostic paper we have, and no long term treatment plan is offered. 

This is not about us coming to you and asking you to make the autism go away. This is about us asking you to be a doctor. 


We need you to help us with our whole sick child - including the autistic bit. You can't expect us to choose one or the other... the burden is too heavy, and the risk is too great. Big picture, we also need you, as all families living with autism need you, to give a crap about how it all fits together. For now, though... please treat him.


For what it it worth, we do not need a geneticist's ideas about education and diet. Unless of course, you are also willing to hear my views on waiting room organisation. I have a few thoughts, but figured it is not my place to share them with you.

Thanks,

Valerie


Now, the question is, can I afford to send this, if I want ongoing medical care from any of these people... ?

If I do, I'll be sure to post their replies here.